Gene Summary

Name:
G protein-coupled receptor 61
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased vertical activity Gpr61em1(IMPC)Bay HOM   Early adult 5.83×10-05
hyperactivity Gpr61em1(IMPC)Bay HOM Early adult 2.42×10-07
decreased bone mineral density Gpr61em1(IMPC)Bay HOM Early adult 7.39×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Gpr61 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gpr61 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Polyphagia, Hypertriglyceridemia, Childhood-... ORPHA:71529
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Pituitary hypothyroidism, Hypoglycemic seizures, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Pituitary hypothyroidism, Hypoglycemic seizures, Cholestasis, Hyperinsul... ORPHA:71526
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Decreased circulating free fatty acid level, Inc... ORPHA:324575
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Hypoglycemic seizures, Cholestasis, Obesity, Adre... OMIM:609734
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Excessive insulin re... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:276556
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Loss of gluteal subcutaneous adipo... ORPHA:280356
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:66628
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypogonadism OMIM:614962
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:179494
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Abnor... OMIM:614963
Macrosomia Adiposa Congenita
Large for gestational age, Polyphagia, Obesity, Adrenocortical adenoma OMIM:248100
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Hypertriglyceridemia, Incre... OMIM:615703
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Microcephaly, Polyphagia, Hypogonadism OMIM:617119
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly,... OMIM:615238
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue,... OMIM:604367
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly, Failure to thrive in infancy OMIM:619175
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Hepatic steatosis, Caudate atrophy, Insulin resistance, Hyperinsulinemia, Reduc... ORPHA:363400
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Lipoatrophy, Diabetes mell... ORPHA:79084
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, De... ORPHA:435651
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Hyperinsulinism Due To Glucokinase Deficiency
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II ... ORPHA:79299
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:608594
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Precocious puberty, Type II diabetes ... ORPHA:254516
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:269700
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyphagia, Hyper... OMIM:222100
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity... OMIM:616222
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Dystonia, Hepatomegaly, Hypertriglyceridemia, Tremor OMIM:615924
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid ... OMIM:615980
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Cerebral atrophy, Obesity, Thin corpus callosum OMIM:616521
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Microcephaly, Delayed puberty, Hyperinsulinemic hypogly... OMIM:616033
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance, Truncal obesity ORPHA:140941
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Huntington Disease
Cerebral atrophy, Degeneration of the striatum, Dystonia, Caudate atrophy, Choking episodes, Oral... ORPHA:399
X-Linked Acrogigantism
Diabetes insipidus, Delayed puberty, Increased serum insulin-like growth factor 1, Hypopituitaris... ORPHA:300373
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Microcephaly, Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal o... OMIM:618160
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:79644
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Graves Disease, Susceptibility To, 1
Graves disease, Polyphagia, Abnormal abdomen morphology, Goiter, Weight loss OMIM:275000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Elevated... OMIM:615381
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin... ORPHA:411593
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia, Hypergonadotropic hypogonadism, Failure to thrive, Polyphagi... OMIM:606407
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Cessation of head growth ORPHA:411515
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Elbow flexion contracture, Hypertriglyceridem... OMIM:616516
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Small for gestational age, Hypercholesterole... ORPHA:79237
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Obesity, Arthrogryposis multiplex congenita, P... OMIM:615547
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Polyphagia, Hyperglycemia OMIM:615986
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, F... OMIM:605814
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Truncal obesity, Micr... ORPHA:181393
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Citrullinemia Type Ii
Cerebral edema, Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Delayed menarche, Hypercholes... ORPHA:247585
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... OMIM:613327
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Flexion contracture, Premature pubarche, Central hypothyroidism, Failure t... ORPHA:398069
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Femoral hernia, Inguinal hernia, Ta... ORPHA:2849
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Adrenal calcification, P... OMIM:278000
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Splenomegaly, Lipoatrophy, Hepa... ORPHA:2348
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Mody
Large for gestational age, Exocrine pancreatic insufficiency, Glycosuria, Neonatal hypoglycemia, ... ORPHA:552
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Maternal diabetes, Insulin resistance, Splenomegaly, Lipoatrophy, Hepatomegaly... ORPHA:79083
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly OMIM:618010
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Meningioma
Focal T2 hypointense thalamic lesion, Hypogonadotropic hypogonadism, Decreased circulating follic... ORPHA:2495
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Microcephaly, Obesity OMIM:309585
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Increased blood urea nitrogen, Obesity, Abnormal dental enamel mo... ORPHA:251004
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Combined Oxidative Phosphorylation Deficiency 15
Microcephaly, Obesity, Abnormal cerebral white matter morphology, Tremor OMIM:614947
Secondary Short Bowel Syndrome
Primary hypothyroidism, Cholestasis, Central hypothyroidism, Abnormal blood ion concentration, Fa... ORPHA:95427
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Cirrhosis, Hepatic fibrosis, H... OMIM:602579
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Oral-pharyngeal dysphagia, Obesity, Lipoma, Microcephaly, Hypoplasia of the corpus call... ORPHA:480907
Pseudohypoparathyroidism Type 1C
Cerebral calcification, Hypocalcemic seizures, Pseudohypoparathyroidism, Pituitary resistance to ... ORPHA:79444
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarche, I... ORPHA:759
Narcolepsy Type 1
Obesity ORPHA:2073
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Decreased adipose tissue around neck, Loss... OMIM:608612
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypogonadot... ORPHA:54595
Cebalid Syndrome
Polyphagia, Polymicrogyria, Congenital diaphragmatic hernia OMIM:618774
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Maturity-onset diabetes of the ... ORPHA:99886
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, ... OMIM:618620
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Perisylvian polymicrogyria, Occipital cortical atrophy, Central adrenal i... ORPHA:98754
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Perisylvian polymicrogyria, Occipital cortical atrophy, Central adrenal i... ORPHA:98793
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Perisylvian polymicrogyria, Occipital cortical atrophy, Central adrenal i... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Perisylvian polymicrogyria, Occipital cortical atrophy, Central adrenal i... ORPHA:177901
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Adrenocortical hypoplasia, Hypert... OMIM:307030
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hypothyroidism, Hepatosplenomegaly, Periventricular cysts, Hypopituitarism, Mi... OMIM:619013
Fanconi-Bickel Syndrome
Glycosuria, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Fasting... ORPHA:2088
Donohue Syndrome
Fasting hypoglycemia, Cholestasis, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Adipose t... OMIM:246200
Mpi-Cdg
Hypothyroidism, Portal hypertension, Decreased liver function, Hepatomegaly, Failure to thrive, H... ORPHA:79319
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Man1B1-Cdg
Polyphagia, Resting tremor, Truncal obesity ORPHA:397941
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Delayed puberty, Obesity, Microcephaly, Male hypogonadis... OMIM:300148
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypothyroidism, Hypercholesterolemia, Obesity, Hepatomegal... ORPHA:412
Alstrom Syndrome
Hepatic steatosis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hepatomegaly, Hypergonad... OMIM:203800
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, E... OMIM:603471
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Dystonia, Obesity, Microcephaly, Hypoplasia of the corpus callosum OMIM:616756
Pick Disease Of Brain
Polyphagia OMIM:172700
Prader-Willi-Like Syndrome
Central hypothyroidism, Perisylvian polymicrogyria, Occipital cortical atrophy, Central adrenal i... ORPHA:398073
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Inguinal hernia, Biliary tract abnormality, Ty... ORPHA:3191
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Obesity, Cholesterol gallstones, Acute hepa... ORPHA:209902
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased total bilirubin, Ascites, Increa... ORPHA:890
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Delayed puberty, Increased hepatic glycogen content, Hepatomegaly, ... ORPHA:369
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Hypoglycemia, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Delayed... ORPHA:264580
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Hypocalcemic seizures, Pseudohypoparathyroidism, Pituitary resistance to ... ORPHA:79443
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism OMIM:615993
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Frontotemporal Dementia
Polyphagia OMIM:600274
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Action tremor, Hypercholesterolemia, Abnormality of the thyroid gland, Obesity, H... ORPHA:77296
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Flexion contracture, Splenomegaly, Hepatomegaly, Failure to thrive, Panniculitis, ... OMIM:617591
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hepatitis, Hypertriglyc... OMIM:300635
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... ORPHA:189427
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Increased C-peptide level, Hypoglycemic seizures, Neonatal hypoglycemia, Decre... ORPHA:71212
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Semilobar Holoprosencephaly
Flexion contracture, Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Pan... ORPHA:220386
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:261
Alobar Holoprosencephaly
Flexion contracture, Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Pan... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Flexion contracture, Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Pan... ORPHA:93926
Lobar Holoprosencephaly
Flexion contracture, Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Pan... ORPHA:93924
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Delayed puberty, Sple... ORPHA:370
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Adrenal hyperplasia, Pigmented micronodular adrenocortical dis... ORPHA:189439
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Splenom... ORPHA:79240
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Pituitary prolactin cell adenoma... ORPHA:251937
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Decreased circulating T4 level, Hyperphosphatemia, Elevate... ORPHA:94086
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Microcephaly, Truncal obesity OMIM:300471
Immunodeficiency 61
Obesity OMIM:300310
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Hyperphosphatemia, Elevated circulating parathyr... OMIM:603233
Prader-Willi Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Decreased circulating gonadotr... ORPHA:739
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Bardet-Biedl Syndrome 19
Obesity, Hypogonadism OMIM:615996
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Elbow flexion contracture, Broad-based gait OMIM:619470
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Truncal obesity ORPHA:261483
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Omphal... OMIM:614450
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Decreased body weight, Hyperlipidemia, Recurrent... ORPHA:444490
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Luscan-Lumish Syndrome
Polyphagia, Obesity, Overgrowth OMIM:616831
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Fryns Macrocephaly
Cerebral atrophy, Knee flexion contracture, Truncal obesity OMIM:600302
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia, Splenomegaly OMIM:618398
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL chol... ORPHA:247598
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Bili... ORPHA:1414
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hyperlipidemia, Hyponatremia, Central hypoth... ORPHA:293987
Summitt Syndrome
Obesity OMIM:272350
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... OMIM:176270
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Obesity, Truncal obesity, Inguinal hernia, Hip contracture OMIM:618363
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
Mehmo Syndrome
Microcephaly, Obesity, Diabetes mellitus ORPHA:85282
Morm Syndrome
Hyperactivity ORPHA:75858
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Basal ganglia calcification... OMIM:612462
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Enlarged polycystic ovaries, Increa... ORPHA:785
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity, Congenital hepatic fibrosis ORPHA:2377
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Spastic Paraplegia 11, Autosomal Recessive
Agenesis of corpus callosum, Obesity, Cerebral cortical atrophy, Abnormal periventricular white m... OMIM:604360
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Angelman Syndrome
Cerebral dysmyelination, Precocious puberty in females, Obesity, Microcephaly, Cerebral cortical ... ORPHA:72
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism, Microcephaly, Cerebral cortical atrophy, Hypoplasia of the co... ORPHA:352530
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Borjeson-Forssman-Lehmann Syndrome
Microcephaly, Obesity, Delayed puberty OMIM:301900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Abdominal obes... OMIM:615954
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increase... OMIM:615830
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
2Q23.1 Microdeletion Syndrome
Microcephaly, Polyphagia ORPHA:228402
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Basal ganglia calcification... OMIM:103580
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Puberty and gonadal disorders, Dystonia, Obesity, Cerebral white matter atrophy... ORPHA:464282
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Perisylvian polymicrogyria, Obesity, Microcephaly, Hypoplasia of the corpus cal... OMIM:618443
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931
Familial Multiple Lipomatosis
Lipodystrophy, Cerebral calcification, Hyperlipidemia, Insulin resistance, Overgrowth, Increased ... ORPHA:199276
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, A... ORPHA:2235
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Elevated circu... ORPHA:158057
Trisomy 18P
Microcephaly, Polyphagia ORPHA:1715
Nephronophthisis 15
Hepatic failure, Obesity OMIM:614845
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Obesity, Truncal obesity, Precocious puberty, Ma... ORPHA:96184
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Microtriplication 11Q24.1
Microcephaly, Obesity, Hyperlipidemia ORPHA:289522
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Hypoplasia of the corpus callosum ORPHA:444002
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly, Glucose intolerance, Hepatic f... OMIM:615630
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Dystonia, Resting tremor, Obesity, Microcephaly, Male hypogonadism, Wrist fl... OMIM:300055
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Increased C-peptide level, Hypothyroidism, Fasting hypoglycem... ORPHA:769
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Microcephaly, Hypoalbuminemia, Hypertriglyce... OMIM:617575
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Decreased serum testosterone concentration, Abdominal obesity, Increas... OMIM:300869
Seckel Syndrome 10
Glycosuria, Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepa... OMIM:617253
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Baralle-Macken Syndrome
Microcephaly, Obesity, Dystonia OMIM:619255
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Recurrent pancreatitis, Small for gestational age, Hypercholesterolemia, Insulin r... OMIM:606721
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hypokalemia, Adrenocortical carcinoma, Incre... ORPHA:1501
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism, Enamel hypoplasia OMIM:612463
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating alanine aminotransferase conce... ORPHA:158061
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Elevated hep... OMIM:214900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Hypoplasi... OMIM:619418
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Increased circulating prolactin concentration, Overweight, Dec... ORPHA:99832
48,Xxyy Syndrome
Obesity, Hypergonadotropic hypogonadism, Inguinal hernia, Abnormal dental enamel morphology, Type... ORPHA:10
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Smith-Magenis Syndrome
Hypothyroidism, Failure to thrive in infancy, Hypercholesterolemia, Aplasia/Hypoplasia of the cor... ORPHA:819
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
H Syndrome
Lipodystrophy, Enlarged kidney, Hepatosplenomegaly, Hernia, Diabetes mellitus, Hypertriglyceridem... ORPHA:168569
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Hypogonadotropic hypogonadism, Reactive hypoglycemia OMIM:600955
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Retinopathy, Pigmentary, And Mental Retardation
Microcephaly, Hypogonadism, Truncal obesity OMIM:268050
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hypogona... ORPHA:2234
Short Stature, Dauber-Argente Type
Microcephaly, Fasting hyperinsulinemia OMIM:619489
Rett Syndrome
Dystonia, Progressive microcephaly, Cholecystitis, Increased serum pyruvate, Increased serum lept... ORPHA:778
Lysinuric Protein Intolerance
Hepatic failure, Pancreatitis, Decreased response to growth hormone stimulation test, Hyperammone... ORPHA:470
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, ... OMIM:603553
Senior-Loken Syndrome 9
Hypogonadism, Obesity, Cholestasis, Hepatic fibrosis OMIM:616629
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, E... OMIM:232400
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Obesity, Diabetes mellitus OMIM:610628
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:2233
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Trisomy 5P
Obesity ORPHA:1742
Insulin-Like Growth Factor I, Resistance To
Lipodystrophy, Decreased body weight, Increased serum insulin-like growth factor 1, Reduced subcu... OMIM:270450
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity OMIM:616977
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Leprechaunism
Hypokalemia, Decreased body weight, Enlarged kidney, Fasting hypoglycemia, Central hypothyroidism... ORPHA:508
Bardet-Biedl Syndrome 21
Obesity, Elevated hepatic transaminase, Overweight OMIM:617406
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Polyphagia, Dilation of lateral ... OMIM:607485
Juvenile Huntington Disease
Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-based gait ORPHA:248111
Proteasome-Associated Autoinflammatory Syndrome 1
Lipodystrophy, Cardiomegaly, Flexion contracture, Loss of facial adipose tissue, Elbow flexion co... OMIM:256040
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Glycine Encephalopathy
Hyperactivity OMIM:605899
Adnp Syndrome
Cerebral atrophy, Oral-pharyngeal dysphagia, Truncal obesity, Inguinal hernia, Microcephaly, Hypo... ORPHA:404448
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Jaundice, S... ORPHA:540
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Intellectual Developmental Disorder, Autosomal Dominant 1
Microcephaly, Polyphagia OMIM:156200
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity, Elevated circulating creatine kinase concentration, Left ve... OMIM:615418
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Umbilical hernia, Obesity, Cerebral atrophy ORPHA:171839
Lysosomal Acid Lipase Deficiency
Hepatic failure, Primary adrenal insufficiency, Fatal liver failure in infancy, Ascites, Hyperspl... ORPHA:275761
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypothyroidism, Hyperlipidemia, Obesity, Microcephaly, Precocious puberty, Art... ORPHA:254346
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity, Hypoplasia of the corpus callosum ORPHA:521390
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abnormal cerebral white matter morphology, Simplified gyral pattern, Cortical dysplasia, Hypoplas... OMIM:300354
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Macrocephaly/Autism Syndrome
Obesity, Splenomegaly, Hepatomegaly OMIM:605309
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Truncal obesity, Paradoxical increased cortisol secretion on dexamethas... OMIM:610475
Rafiq Syndrome
Obesity, Flexion contracture, Truncal obesity OMIM:614202
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Pancreatic islet-cell hyperplasia, Visceromegaly OMIM:601165
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Microcephaly, Truncal obesity ORPHA:85280
15Q24 Microdeletion Syndrome
Small for gestational age, Hernia, Obesity, Congenital diaphragmatic hernia, Microcephaly, Failur... ORPHA:94065
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Joint laxity, Hyperactivity, Broad-based gait ORPHA:457260
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
7Q11.23 Microduplication Syndrome
Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Simplified gyral pattern, Polyphagia ORPHA:96121
Ataxia-Oculomotor Apraxia Type 4
Obesity, Dystonia ORPHA:459033
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity, Action tremor, Hypoplasia of the corpus callosum ORPHA:93952
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosu... ORPHA:3157
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Congenital hypothyroidism, Decreased circulating T4 level, Prolonged n... ORPHA:226313
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hand tremor, Reduced subcutaneous adipose tissue, Truncal obesity, Flexion contracture of digit, ... ORPHA:3041
Gaisböck Syndrome
Increased circulating renin level, Hypercholesterolemia, Cholecystitis, Obesity, Overweight, Hype... ORPHA:90041
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Microcephaly, Failure to thrive, Cerebral cortical atrophy, Exaggerated star... OMIM:618201
Methanol Poisoning
Abnormal corpus callosum morphology, Hyperlipidemia, Abnormal caudate nucleus morphology, Abnorma... ORPHA:31825
Clark-Baraitser Syndrome
Obesity OMIM:617752
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Hepatomegaly, Overweight, Jaun... ORPHA:26793
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive, Elevated hepatic transaminas... ORPHA:2089
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity OMIM:274270
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Hyponatrem... ORPHA:91355
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Hyperphosphatasia With Mental Retardation Syndrome 6
Osteopenia, Flexion contracture, Hyperactivity, Knee flexion contracture, Hip contracture, Elbow ... OMIM:616809
Intellectual Developmental Disorder, Autosomal Recessive 13
Secondary microcephaly, Hypoplasia of the corpus callosum, Truncal obesity OMIM:613192
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia, Abnormality o... ORPHA:363618
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Obesity, Microcephaly, Thick corpus callosum, Hypoplasia of the corpus ... ORPHA:464288
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Ck Syndrome
Hyperactivity, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Hypergonadotropic hypogonadism, E... ORPHA:91
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Failur... ORPHA:905
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Resting tremor, Tremor ORPHA:3077
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Microcephaly, Failu... ORPHA:73272
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Obesity, Flexion contracture of toe, Hypogonadism ORPHA:3409
Chung-Jansen Syndrome
Obesity OMIM:617991
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hypothyroidism, Hyperlipidemia, Enlarged kidney, Delayed puberty, Hypercholest... ORPHA:79259
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Pituitary adenoma, Abdominal obesity, Glucose intolerance, Impaired glucose... OMIM:219090
Wagr Syndrome
Microcephaly, Obesity ORPHA:893
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia OMIM:612716
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Perrault Syndrome 4
Obesity, Decreased serum estradiol, Increased circulating gonadotropin level, Disproportionate ta... OMIM:615300
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Histidinemia
Hyperactivity ORPHA:2157
Vipoma
Hypokalemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Increased circulating... ORPHA:97282
Joubert Syndrome 37
Obesity, Hepatomegaly, Hypoplasia of the corpus callosum OMIM:619185
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Obesity, Ov... ORPHA:2822
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Truncal obesity, Adrenal hyperplasia,... OMIM:219080
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Small fo... ORPHA:567983
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Microcephaly, Increased body mass index, Abnormal cer... OMIM:300957
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Decreased body weight, Hyperinsulinemia, Generalized lipodystrophy... ORPHA:79474
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Glycosuria, Hypoglycemia, Hepatomegaly, Hypouricemia, Elevated hepatic... OMIM:616026
1P36 Deletion Syndrome
Hepatic steatosis, Abnormality of the liver, Hypothyroidism, Agenesis of corpus callosum, Obesity... ORPHA:1606
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypoplasia of the corpus callosum, Obesity, Dysphagia, Cessation of head growth, Secondary microc... ORPHA:98794
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Hyperlipidemia, Delayed puberty, Abnormal circulating lipid conc... ORPHA:77293
Ppoma
Intestinal carcinoid, Abnormality of the thyroid gland, Primary hyperparathyroidism, Increased ci... ORPHA:97278
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Microcephaly, Polyphagia ORPHA:251028
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Joint hypermobility OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Multiple joint contractures, Aplasia/Hypoplasia of the corpus ca... ORPHA:2570
Somatostatinoma
Abnormality of the thyroid gland, Primary hyperparathyroidism, Increased circulating prolactin co... ORPHA:97283
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:363741
Angelman Syndrome Due To A Point Mutation
Obesity, Dysphagia, Cessation of head growth, Secondary microcephaly, Abnormal eating behavior ORPHA:411511
48,Xxxy Syndrome
Obesity, Inguinal hernia, Abnormal dental enamel morphology, Type II diabetes mellitus, Tall stat... ORPHA:96263
Gand Syndrome
Hyperactivity OMIM:615074
Alström Syndrome
Hepatic failure, Decreased circulating T4 level, Abnormal liver physiology, Hepatitis, Increased ... ORPHA:64
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Agenesis of corpus callosum, Intention tremor, Increased serum testosterone ... OMIM:264090
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
13Q12.3 Microdeletion Syndrome
Camptodactyly, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:412035
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Solitary Fibrous Tumor/Hemangiopericytoma
Pelvic mass, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-peptide le... ORPHA:2126
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, A... ORPHA:478
Xp21 Dele